Pediatric acute myeloid leukemia: Biology and therapeutic implications of genomic variants

Pediatric Clinics of North America

Volumn 62, Issue 1, 2015, Pages 75-93

  Tarlock, Katherine ^a   Meshinchi, Soheil ^a  

^a Fred Hutchinson Cancer Research Center   (United States)

Author keywords

Acute myeloid leukemia; Epigenetic; Genomic; Pediatrics; Therapy

Indexed keywords

CCAAT ENHANCER BINDING PROTEIN ALPHA; CD135 ANTIGEN; CYTARABINE; DAUNORUBICIN; ETOPOSIDE; GEMTUZUMAB OZOGAMICIN; IDARUBICIN; NUCLEOPHOSMIN;

ACUTE GRANULOCYTIC LEUKEMIA; AGE; CANCER CHEMOTHERAPY; CANCER EPIDEMIOLOGY; CANCER GENETICS; CANCER INCIDENCE; CANCER RISK; CANCER SURVIVAL; CANCER SUSCEPTIBILITY; CEBPA GENE; CELL THERAPY; CHILDHOOD LEUKEMIA; CHROMOSOME ABERRATION; CYTOGENETICS; DRUG TARGETING; EPIGENETICS; FLT3 GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HEMATOPOIETIC CELL; HUMAN; MOLECULARLY TARGETED THERAPY; NPM1 GENE; REVIEW; SOMATIC MUTATION; CHILD; GENETICS; KARYOTYPING; LEUKEMIA, MYELOID, ACUTE; MUTATION; PEDIATRICS; PRESCHOOL CHILD; PREVALENCE;

CHILD; CHILD, PRESCHOOL; GENETIC VARIATION; HUMANS; KARYOTYPING; LEUKEMIA, MYELOID, ACUTE; MUTATION; PEDIATRICS; PREVALENCE;

EID: 84915748732     PISSN: 00313955     EISSN: 15578240     Source Type: Journal    
DOI: 10.1016/j.pcl.2014.09.007     Document Type: Review

References (68)

1. Altekruse S., Kosary C., Krapcho M., et al. SEER cancer statistics review, 1975-2007 2010, National Cancer Institute, Bethesda (MD), based on November 2009 SEER data submission, posted to the SEER website, 2010. Available at:. http://seercancergov/csr/1975_2007/.
2. Ravindranath Y., Abella E., Krischer J.P., et al. Acute myeloid leukemia (AML) in Down's syndrome is highly responsive to chemotherapy: experience on Pediatric Oncology Group AML Study 8498. Blood 1992, 80(9):2210-2214.
3. Alter B.P. Cancer in Fanconi anemia, 1927-2001. Cancer 2003, 97(2):425-440. 10.1002/cncr.11046.
4. Marrone A., Dokal I. Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer. Expert Rev Mol Med 2004, 6(26):1-23. 10.1017/S1462399404008671.
5. Shimamura A. Shwachman-diamond syndrome. Semin Hematol 2006, 43(3):178-188. 10.1053/j.seminhematol.2006.04.006.
6. Dale D.C., Person R.E., Bolyard A.A., et al. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood 2000, 96(7):2317-2322.
7. Appelbaum F.R., Gundacker H., Head D.R., et al. Age and acute myeloid leukemia. Blood 2006, 107(9):3481-3485. 10.1182/blood-2005-09-3724.
8. Ostronoff F., Othus M., Gerbing R.B., et al. Co-expression of NUP98/NSD1 and FLT3/ITD is more prevalent in younger AML patients and leads to high-risk of induction failure: a COG and SWOG report. Blood 2014, 10.1182/blood-2014-04-570929.
9. Gruber T.A., Larson Gedman A., Zhang J., et al. An Inv(16)(p13.3q24.3)-encoded CBFA2T3-GLIS2 fusion protein defines an aggressive subtype of pediatric acute megakaryoblastic leukemia. Cancer Cell 2012, 22(5):683-697. 10.1016/j.ccr.2012.10.007.
10. de Rooij J.D., Hollink I.H., Arentsen-Peters S.T., et al. NUP98/JARID1A is a novel recurrent abnormality in pediatric acute megakaryoblastic leukemia with a distinct HOX gene expression pattern. Leukemia 2013, 27(12):2280-2288. 10.1038/leu.2013.87.
11. Raghavan M., Smith L.L., Lillington D.M., et al. Segmental uniparental disomy is a commonly acquired genetic event in relapsed acute myeloid leukemia. Blood 2008, 112(3):814-821.
12. Gupta M., Raghavan M., Gale R.E., et al. Novel regions of acquired uniparental disomy discovered in acute myeloid leukemia. Genes Chromosomes Cancer 2008, 47(9):729-739.
13. Radtke I., Mullighan C.G., Ishii M., et al. Genomic analysis reveals few genetic alterations in pediatric acute myeloid leukemia. Proc Natl Acad Sci USA 2009, 106(31):12944-12949. pii:0903142106. 10.1073/pnas.0903142106.
14. Walter M.J., Payton J.E., Ries R.E., et al. Acquired copy number alterations in adult acute myeloid leukemia genomes. Proc Natl Acad Sci USA 2009, 106(31):12950-12955. pii:0903091106. 10.1073/pnas.0903091106.
15. Mardis E.R., Ding L., Dooling D.J., et al. Recurring mutations found by sequencing an acute myeloid leukemia genome. NEngl J Med 2009, 361(11):1058-1066. 10.1056/NEJMoa0903840.
16. Meshinchi S., Ries R.E., Trevino L.R., et al. Identification of novel somatic mutations, regions of recurrent loss of heterozygosity (LOH) and significant clonal evolution from diagnosis to relapse in childhood AML determined by exome capture sequencing - an NCI/COG Target AML Study. ASH Annual Meeting Abstracts 2012, 120(21):123.
17. Nakao M., Yokota S., Iwai T., et al. Internal tandem duplication of the flt3 gene found in acute myeloid leukemia. Leukemia 1996, 10(12):1911-1918.
18. Yamamoto Y., Kiyoi H., Nakano Y., et al. Activating mutation of D835 within the activation loop of FLT3 in human hematologic malignancies. Blood 2001, 97(8):2434-2439.
19. Meshinchi S., Alonzo T.A., Stirewalt D.L., et al. Clinical implications of FLT3 mutations in pediatric AML. Blood 2006, 108(12):3654-3661.
20. Meshinchi S., Woods W.G., Stirewalt D.L., et al. Prevalence and prognostic significance of Flt3 internal tandem duplication in pediatric acute myeloid leukemia. Blood 2001, 97(1):89-94.
21. Meshinchi S., Arceci R.J., Sanders J.E., et al. Role of allogeneic stem cell transplantation in FLT3/ITD-positive AML. Blood 2006, 108(1):400. [author reply: 400-1].
22. Bornhauser M., Illmer T., Schaich M., et al. Improved outcome after stem-cell transplantation in FLT3/ITD-positive AML. Blood 2007, 109(5):2264-2265. [author reply: 2265].
23. Ravandi F., Cortes J.E., Jones D., et al. Phase I/II study of combination therapy with sorafenib, idarubicin, and cytarabine in younger patients with acute myeloid leukemia. JClin Oncol 2010, 28(11):1856-1862. 10.1200/JCO.2009.25.4888.
24. Kelly L.M., Yu J.C., Boulton C.L., et al. CT53518, a novel selective FLT3 antagonist for the treatment of acute myelogenous leukemia (AML). Cancer Cell 2002, 1(5):421-432.
25. Weisberg E., Boulton C., Kelly L.M., et al. Inhibition of mutant FLT3 receptors in leukemia cells by the small molecule tyrosine kinase inhibitor PKC412. Cancer Cell 2002, 1(5):433-443.
26. Spiekermann K., Dirschinger R.J., Schwab R., et al. The protein tyrosine kinase inhibitor SU5614 inhibits FLT3 and induces growth arrest and apoptosis in AML-derived cell lines expressing a constitutively activated FLT3. Blood 2003, 101(4):1494-1504.
27. Dohner K., Schlenk R.F., Habdank M., et al. Mutant nucleophosmin (NPM1) predicts favorable prognosis in younger adults with acute myeloid leukemia and normal cytogenetics: interaction with other gene mutations. Blood 2005, 106(12):3740-3746. pii:2005-05-2164. 10.1182/blood-2005-05-2164.
28. Gale R.E., Green C., Allen C., et al. The impact of FLT3 internal tandem duplication mutant level, number, size and interaction with NPM1 mutations in a large cohort of young adult patients with acute myeloid leukemia. Blood 2008, 111:2776-2784.
29. Hollink I.H., Zwaan C.M., van den Heuvel-Eibrink M.M., et al. Nucleophosmin gene mutations identify a favorable risk group in childhood acute myeloid leukemia with a normal karyotype. ASH Annual Meeting Abstracts 2007, 110(11):366.
30. Brown P., McIntyre E., Rau R., et al. The incidence and clinical significance of nucleophosmin mutations in childhood AML. Blood 2007, 110(3):979-985. 10.1182/blood-2007-02-076604.
31. Ho P.A., Alonzo T.A., Gerbing R.B., et al. Prevalence and prognostic implications of CEBPA mutations in pediatric acute myeloid leukemia (AML): a report from the Children's Oncology Group. Blood 2009, 113(26):6558-6566. 10.1182/blood-2008-10-184747.
32. Kirstetter P., Schuster M.B., Bereshchenko O., et al. Modeling of C/EBPalpha mutant acute myeloid leukemia reveals a common expression signature of committed myeloid leukemia-initiating cells. Cancer Cell 2008, 13(4):299-310. 10.1016/j.ccr.2008.02.008.
33. Wouters B.J., Jorda M.A., Keeshan K., et al. Distinct gene expression profiles of acute myeloid/T-lymphoid leukemia with silenced CEBPA and mutations in NOTCH1. Blood 2007, 110(10):3706-3714.
34. Chen J., Odenike O., Rowley J.D. Leukaemogenesis: more than mutant genes. Nat Rev Cancer 2010, 10(1):23-36. pii:nrc2765. 10.1038/nrc2765.
35. Hasle H., Alonzo T.A., Auvrignon A., et al. Monosomy 7 and deletion 7q in children and adolescents with acute myeloid leukemia: an international retrospective study. Blood 2007, 109(11):4641-4647. 10.1182/blood-2006-10-051342.
36. Tallman M.S., Andersen J.W., Schiffer C.A., et al. All-trans-retinoic acid in acute promyelocytic leukemia. NEngl J Med 1997, 337(15):1021-1028.
37. Douer D., Tallman M.S. Arsenic trioxide: new clinical experience with an old medication in hematologic malignancies. JClin Oncol 2005, 23(10):2396-2410. 10.1200/JCO.2005.10.217.
38. Lo-Coco F., Avvisati G., Vignetti M., et al. Gruppo Italiano Malattie Ematologiche dell'Adulto, German-Austrian Acute Myeloid Leukemia Study Group, Study Alliance Leukemia. Retinoic acid and arsenic trioxide for acute promyelocytic leukemia. NEngl J Med 2013, 369(2):111-121. 10.1056/NEJMoa1300874.
39. Ley T.J., Mardis E.R., Ding L., et al. DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature 2008, 456(7218):66-72. pii:nature07485. 10.1038/nature07485.
40. Ley T.J., Ding L., Walter M.J., et al. DNMT3A mutations in acute myeloid leukemia. NEngl J Med 2010, 363(25):2424-2433. 10.1056/NEJMoa1005143.
41. Ho P.A., Alonzo T.A., Kopecky K.J., et al. Molecular alterations of the IDH1 gene in AML: a Children's Oncology Group and Southwest Oncology Group study. Leukemia 2010, 24(5):909-913. 10.1038/leu.2010.56.
42. Ho P.A., Kutny M.A., Alonzo T.A., et al. Leukemic mutations in the methylation-associated genes DNMT3A and IDH2 are rare events in pediatric AML: a report from the Children's Oncology Group. Pediatr Blood Cancer 2011, 57(2):204-209. 10.1002/pbc.23179.
43. Downing J.R., Wilson R.K., Zhang J., et al. The pediatric cancer genome project. Nat Genet 2012, 44(6):619-622. 10.1038/ng.2287.
44. Schuback H.L., Alonzo T., Gerbing R., et al. CBFA2T3-GLIS2 fusion is prevalent in younger patients with acute myeloid leukemia and associated with high risk of relapse and poor outcome: A Children's Oncology Group Report. ASH Annual Meeting Abstracts 2014.
45. Masetti R., Pigazzi M., Togni M., et al. CBFA2T3-GLIS2 fusion transcript is a novel common feature in pediatric, cytogenetically normal AML, not restricted to FAB M7 subtype. Blood 2013, 121(17):3469-3472. 10.1182/blood-2012-11-469825.
46. Helton H.L., Ries R.E., Alonzo T.A., et al. Clinically significant mutations, deletions and translocations involving ETV6 identified by whole genome and whole exome sequencing; report from NCI/COG target AML initiative. ASH Annual Meeting Abstracts 2012, 120(21):125.
47. Ding L., Ley T.J., Larson D.E., et al. Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing. Nature 2012, 481(7382):506-510. 10.1038/nature10738.
48. Gamis A.S., Alonzo T.A., Perentesis J.P., et al. Children's Oncology Group's 2013 blueprint for research: acute myeloid leukemia. Pediatr Blood Cancer 2012, 10.1002/pbc.24432.
49. Degos L., Dombret H., Chomienne C., et al. All-trans-retinoic acid as a differentiating agent in the treatment of acute promyelocytic leukemia. Blood 1995, 85(10):2643-2653.
50. Weinstein H.J., Mayer R.J., Rosenthal D.S., et al. Chemotherapy for acute myelogenous leukemia in children and adults: VAPA update. Blood 1983, 62(2):315-319.
51. Ravindranath Y., Steuber C.P., Krischer J., et al. High-dose cytarabine for intensification of early therapy of childhood acute myeloid leukemia: a Pediatric Oncology Group study. JClin Oncol 1991, 9(4):572-580.
52. Woods W.G., Kobrinsky N., Buckley J.D., et al. Timed-sequential induction therapy improves postremission outcome in acute myeloid leukemia: a report from the Children's Cancer Group. Blood 1996, 87(12):4979-4989.
53. Stevens R.F., Hann I.M., Wheatley K., et al. Marked improvements in outcome with chemotherapy alone in paediatric acute myeloid leukemia: results of the United Kingdom Medical Research Council's 10th AML trial. MRC Childhood Leukaemia Working Party. Br J Haematol 1998, 101(1):130-140.
54. Woods W.G., Neudorf S., Gold S., et al. Acomparison of allogeneic bone marrow transplantation, autologous bone marrow transplantation, and aggressive chemotherapy in children with acute myeloid leukemia in remission. Blood 2001, 97(1):56-62.
55. Ravindranath Y., Yeager A.M., Chang M.N., et al. Autologous bone marrow transplantation versus intensive consolidation chemotherapy for acute myeloid leukemia in childhood. Pediatric Oncology Group. NEngl J Med 1996, 334(22):1428-1434. 10.1056/NEJM199605303342203.
56. Ravindranath Y., Chang M., Steuber C.P., et al. Pediatric Oncology Group (POG) studies of acute myeloid leukemia (AML): a review of four consecutive childhood AML trials conducted between 1981 and 2000. Leukemia 2005, 19(12):2101-2116. Pediatric Oncology Group. 10.1038/sj.leu.2403927.
57. Creutzig U., Zimmermann M., Ritter J., et al. Treatment strategies and long-term results in paediatric patients treated in four consecutive AML-BFM trials. Leukemia 2005, 19(12):2030-2042. 10.1038/sj.leu.2403920.
58. Gibson B.E., Wheatley K., Hann I.M., et al. Treatment strategy and long-term results in paediatric patients treated in consecutive UK AML trials. Leukemia 2005, 19(12):2130-2138. 10.1038/sj.leu.2403924.
59. Smith F.O., Alonzo T.A., Gerbing R.B., et al. Long-term results of children with acute myeloid leukemia: a report of three consecutive Phase III trials by the Children's Cancer Group: CCG 251, CCG 213 and CCG 2891. Leukemia 2005, 19(12):2054-2062. 10.1038/sj.leu.2403925.
60. Kurt B., Flynn P., Shenep J.L., et al. Prophylactic antibiotics reduce morbidity due to septicemia during intensive treatment for pediatric acute myeloid leukemia. Cancer 2008, 113(2):376-382. 10.1002/cncr.23563.
61. Oliansky D.M., Rizzo J.D., Aplan P.D., et al. The role of cytotoxic therapy with hematopoietic stem cell transplantation in the therapy of acute myeloid leukemia in children: an evidence-based review. Biol Blood Marrow Transplant 2007, 13(1):1-25. 10.1016/j.bbmt.2006.10.024.
62. Horan J.T., Alonzo T.A., Lyman G.H., et al. Impact of disease risk on efficacy of matched related bone marrow transplantation for pediatric acute myeloid leukemia: the Children's Oncology Group. JClin Oncol 2008, 26(35):5797-5801. 10.1200/JCO.2007.13.5244.
63. Becton D., Dahl G.V., Ravindranath Y., et al. Randomized use of cyclosporin A (CsA) to modulate P-glycoprotein in children with AML in remission: Pediatric Oncology Group Study 9421. Blood 2006, 107(4):1315-1324. 10.1182/blood-2004-08-3218.
64. Creutzig U., Ritter J., Zimmermann M., et al. Improved treatment results in high-risk pediatric acute myeloid leukemia patients after intensification with high-dose cytarabine and mitoxantrone: results of Study Acute Myeloid Leukemia-Berlin-Frankfurt-Munster 93. JClin Oncol 2001, 19(10):2705-2713.
65. Gamis A.S., Alonzo T.A., Meshinchi S., et al. Gemtuzumab ozogamicin in children and adolescents with de novo acute myeloid leukemia improves event-free survival by reducing relapse risk: results from the randomized phase III Children's Oncology Group Trial AAML0531. JClin Oncol 2014, 10.1200/JCO.2014.55.3628.
66. Ho P.A., Zeng R., Alonzo T.A., et al. Prevalence and prognostic implications of WT1 mutations in pediatric acute myeloid leukemia (AML): a report from the Children's Oncology Group. Blood 2010, 116(5):702-710. 10.1182/blood-2010-02-268953.
67. Loken M.R., Alonzo T.A., Pardo L., et al. Residual disease detected by multidimensional flow cytometry signifies high relapse risk in patients with de novo acute myeloid leukemia: a report from Children's Oncology Group. Blood 2012, 120(8):1581-1588. 10.1182/blood-2012-02-408336.
68. San Miguel J.F., Vidriales M.B., Lopez-Berges C., et al. Early immunophenotypical evaluation of minimal residual disease in acute myeloid leukemia identifies different patient risk groups and may contribute to postinduction treatment stratification. Blood 2001, 98(6):1746-1751.